Overview
Perlman syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Eclabium of upper lip
Always present (100%)HP:0010803
Abnormal upper lip morphology
Very frequent (80-99%)HP:0000177
Accelerated linear growth
Very frequent (80-99%)HP:0000098
Big calvaria
Very frequent (80-99%)HP:0000256
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Central hypotonia
Very frequent (80-99%)HP:0001252
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Enlarged liver
Very frequent (80-99%)HP:0002240
Enophthalmos
Very frequent (80-99%)HP:0000490
Flat philtrum
Very frequent (80-99%)HP:0000319
High forehead
Very frequent (80-99%)HP:0000348
Large for gestational age
Very frequent (80-99%)HP:0001520
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Poor school performance
Very frequent (80-99%)HP:0001249
Retrognathia
Very frequent (80-99%)HP:0000278
Round, full face
Very frequent (80-99%)HP:0000311
Slack jawed appearance
Very frequent (80-99%)HP:0000194
Specific learning disability
Very frequent (80-99%)HP:0001328
Abnormally shaped pancreas
Frequent (30-79%)HP:0012090
Cryptorchidism
Frequent (30-79%)HP:0000028
Hyperinsulinemia
Frequent (30-79%)HP:0000842
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Low blood sugar
Frequent (30-79%)HP:0001943
Low-set ears
Frequent (30-79%)HP:0000369
Narrow, high-arched roof of mouth
Frequent (30-79%)HP:0002705
Nephroblastoma
Frequent (30-79%)HP:0002667
Nostrils anteverted
Frequent (30-79%)HP:0000463
Palpebronasal fold
Frequent (30-79%)HP:0000286
Related Conditions
Multiple malformation syndrome with early overgrowth(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital hamartoma(parent)
Hereditary neoplastic syndrome(parent)
Hereditary nephropathy(parent)
Developmental hereditary disorder(parent)
Kidney lesion(parent)
Quick Facts
- SNOMED CT
- 722231005
- UMLS CUI
- C0796113
- Fully Specified Name
- Perlman syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.